UniProtKB - Q92753 (RORB_HUMAN)
Nuclear receptor ROR-beta
RORB
Functioni
Nuclear receptor that binds DNA as a monomer to ROR response elements (RORE) containing a single core motif half-site 5'-AGGTCA-3' preceded by a short A-T-rich sequence. Considered to have intrinsic transcriptional activity, have some natural ligands such as all-trans retinoic acid (ATRA) and other retinoids which act as inverse agonists repressing the transcriptional activity. Required for normal postnatal development of rod and cone photoreceptor cells. Modulates rod photoreceptors differentiation at least by inducing the transcription factor NRL-mediated pathway. In cone photoreceptor cells, regulates transcription of OPN1SW. Involved in the regulation of the period length and stability of the circadian rhythm. May control cytoarchitectural patterning of neocortical neurons during development. May act in a dose-dependent manner to regulate barrel formation upon innervation of layer IV neurons by thalamocortical axons. May play a role in the suppression of osteoblastic differentiation through the inhibition of RUNX2 transcriptional activity (By similarity).
By similarityIsoform 1 is critical for hindlimb motor control and for the differentiation of amacrine and horizontal cells in the retina. Regulates the expression of PTF1A synergistically with FOXN4 (By similarity).
By similarityRegions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 18 – 93 | Nuclear receptorPROSITE-ProRule annotationAdd BLAST | 76 | |
Zinc fingeri | 21 – 41 | NR C4-typePROSITE-ProRule annotationAdd BLAST | 21 | |
Zinc fingeri | 57 – 81 | NR C4-typePROSITE-ProRule annotationAdd BLAST | 25 |
GO - Molecular functioni
- DNA-binding transcription activator activity, RNA polymerase II-specific Source: Ensembl
- DNA-binding transcription factor activity Source: UniProtKB
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: UniProtKB
- melatonin receptor activity Source: GO_Central
- nuclear receptor activity Source: GO_Central
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: GO_Central
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
- zinc ion binding Source: InterPro
GO - Biological processi
- amacrine cell differentiation Source: UniProtKB
- cellular response to retinoic acid Source: UniProtKB
- eye photoreceptor cell development Source: UniProtKB
- negative regulation of osteoblast differentiation Source: UniProtKB
- negative regulation of transcription, DNA-templated Source: UniProtKB
- positive regulation of transcription, DNA-templated Source: UniProtKB
- positive regulation of transcription by RNA polymerase II Source: UniProtKB
- regulation of circadian rhythm Source: UniProtKB
- regulation of transcription, DNA-templated Source: ProtInc
- regulation of transcription by RNA polymerase II Source: GO_Central
- retina development in camera-type eye Source: UniProtKB
- retinal cone cell development Source: UniProtKB
- retinal rod cell development Source: UniProtKB
- rhythmic process Source: UniProtKB-KW
- visual perception Source: UniProtKB-KW
Keywordsi
Molecular function | Activator, Developmental protein, DNA-binding, Receptor |
Biological process | Biological rhythms, Sensory transduction, Transcription, Transcription regulation, Vision |
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
PathwayCommonsi | Q92753 |
Reactomei | R-HSA-383280, Nuclear Receptor transcription pathway |
SignaLinki | Q92753 |
Names & Taxonomyi
Protein namesi | Recommended name: Nuclear receptor ROR-betaAlternative name(s): Nuclear receptor RZR-beta Nuclear receptor subfamily 1 group F member 2 Retinoid-related orphan receptor-beta |
Gene namesi | Name:RORB Synonyms:NR1F2, RZRB |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:10259, RORB |
MIMi | 601972, gene |
neXtProti | NX_Q92753 |
VEuPathDBi | HostDB:ENSG00000198963 |
Subcellular locationi
Nucleus
- nucleoplasm 1 Publication
Nucleus
- nucleoplasm Source: UniProtKB
- nucleus Source: UniProtKB
Other locations
- chromatin Source: NTNU_SB
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Epilepsy, idiopathic generalized 15 (EIG15)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_082061 | 77 – 470 | Missing in EIG15; loss of subcellular location in the nucleoplasm. 1 PublicationAdd BLAST | 394 | |
Natural variantiVAR_082062 | 84 | L → P in EIG15. 1 PublicationCorresponds to variant dbSNP:rs869312971Ensembl. | 1 | |
Natural variantiVAR_082063 | 428 | Missing in EIG15; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs869312972Ensembl. | 1 |
Keywords - Diseasei
Disease variant, EpilepsyOrganism-specific databases
MalaCardsi | RORB |
MIMi | 618357, phenotype |
OpenTargetsi | ENSG00000198963 |
PharmGKBi | PA34631 |
Miscellaneous databases
Pharosi | Q92753, Tchem |
Chemistry databases
ChEMBLi | CHEMBL3091268 |
DrugBanki | DB01065, Melatonin |
DrugCentrali | Q92753 |
GuidetoPHARMACOLOGYi | 599 |
Genetic variation databases
BioMutai | RORB |
DMDMi | 124028630 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000053514 | 1 – 470 | Nuclear receptor ROR-betaAdd BLAST | 470 |
Proteomic databases
MassIVEi | Q92753 |
PaxDbi | Q92753 |
PeptideAtlasi | Q92753 |
PRIDEi | Q92753 |
ProteomicsDBi | 75444 [Q92753-2] 75445 [Q92753-1] |
PTM databases
GlyGeni | Q92753, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q92753 |
PhosphoSitePlusi | Q92753 |
Expressioni
Gene expression databases
Bgeei | ENSG00000198963, Expressed in primary visual cortex and 169 other tissues |
ExpressionAtlasi | Q92753, baseline and differential |
Genevisiblei | Q92753, HS |
Organism-specific databases
HPAi | ENSG00000198963, Tissue enhanced (brain, retina) |
Interactioni
Subunit structurei
Monomer.
Interacts with CRX.
By similarityBinary interactionsi
Q92753
With | #Exp. | IntAct |
---|---|---|
Clock [O08785] from Mus musculus. | 2 | EBI-6144615,EBI-79859 |
Isoform 1 [Q92753-1]
Protein-protein interaction databases
IntActi | Q92753, 21 interactors |
STRINGi | 9606.ENSP00000366093 |
Chemistry databases
BindingDBi | Q92753 |
Miscellaneous databases
RNActi | Q92753, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 222 – 460 | NR LBDPROSITE-ProRule annotationAdd BLAST | 239 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 104 – 127 | DisorderedSequence analysisAdd BLAST | 24 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 456 – 461 | AF-2 | 6 |
Domaini
Sequence similaritiesi
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 21 – 41 | NR C4-typePROSITE-ProRule annotationAdd BLAST | 21 | |
Zinc fingeri | 57 – 81 | NR C4-typePROSITE-ProRule annotationAdd BLAST | 25 |
Keywords - Domaini
Zinc-fingerPhylogenomic databases
eggNOGi | KOG4216, Eukaryota |
GeneTreei | ENSGT00940000157708 |
HOGENOMi | CLU_007368_2_0_1 |
InParanoidi | Q92753 |
OMAi | QFGPHNV |
OrthoDBi | 1412946at2759 |
PhylomeDBi | Q92753 |
TreeFami | TF319910 |
Family and domain databases
CDDi | cd06968, NR_DBD_ROR, 1 hit |
Gene3Di | 1.10.565.10, 1 hit 3.30.50.10, 1 hit |
InterProi | View protein in InterPro IPR035500, NHR-like_dom_sf IPR044101, NR_DBD_ROR IPR000536, Nucl_hrmn_rcpt_lig-bd IPR001723, Nuclear_hrmn_rcpt IPR003079, ROR_rcpt IPR001628, Znf_hrmn_rcpt IPR013088, Znf_NHR/GATA |
Pfami | View protein in Pfam PF00104, Hormone_recep, 1 hit PF00105, zf-C4, 1 hit |
PRINTSi | PR01293, RORNUCRECPTR PR00398, STRDHORMONER PR00047, STROIDFINGER |
SMARTi | View protein in SMART SM00430, HOLI, 1 hit SM00399, ZnF_C4, 1 hit |
SUPFAMi | SSF48508, SSF48508, 1 hit |
PROSITEi | View protein in PROSITE PS51843, NR_LBD, 1 hit PS00031, NUCLEAR_REC_DBD_1, 1 hit PS51030, NUCLEAR_REC_DBD_2, 1 hit |
s (2)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative promoter usage. AlignAdd to basketThis isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MCENQLKTKA DATAQIEVIP CKICGDKSSG IHYGVITCEG CKGFFRRSQQ
60 70 80 90 100
NNASYSCPRQ RNCLIDRTNR NRCQHCRLQK CLALGMSRDA VKFGRMSKKQ
110 120 130 140 150
RDSLYAEVQK HQQRLQEQRQ QQSGEAEALA RVYSSSISNG LSNLNNETSG
160 170 180 190 200
TYANGHVIDL PKSEGYYNVD SGQPSPDQSG LDMTGIKQIK QEPIYDLTSV
210 220 230 240 250
PNLFTYSSFN NGQLAPGITM TEIDRIAQNI IKSHLETCQY TMEELHQLAW
260 270 280 290 300
QTHTYEEIKA YQSKSREALW QQCAIQITHA IQYVVEFAKR ITGFMELCQN
310 320 330 340 350
DQILLLKSGC LEVVLVRMCR AFNPLNNTVL FEGKYGGMQM FKALGSDDLV
360 370 380 390 400
NEAFDFAKNL CSLQLTEEEI ALFSSAVLIS PDRAWLIEPR KVQKLQEKIY
410 420 430 440 450
FALQHVIQKN HLDDETLAKL IAKIPTITAV CNLHGEKLQV FKQSHPEIVN
460 470
TLFPPLYKEL FNPDCATGCK
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 121 | Q → E in CAA69929 (Ref. 1) Curated | 1 | |
Sequence conflicti | 128 | A → R in CAA69929 (Ref. 1) Curated | 1 | |
Sequence conflicti | 156 | H → S in CAA69929 (Ref. 1) Curated | 1 | |
Sequence conflicti | 170 | D → V in CAA69929 (Ref. 1) Curated | 1 | |
Sequence conflicti | 468 | G → A in CAA69929 (Ref. 1) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_082061 | 77 – 470 | Missing in EIG15; loss of subcellular location in the nucleoplasm. 1 PublicationAdd BLAST | 394 | |
Natural variantiVAR_082062 | 84 | L → P in EIG15. 1 PublicationCorresponds to variant dbSNP:rs869312971Ensembl. | 1 | |
Natural variantiVAR_082063 | 428 | Missing in EIG15; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs869312972Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_022575 | 1 – 13 | MCENQ…KADAT → MR in isoform 1. 1 PublicationAdd BLAST | 13 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | Y08639 mRNA Translation: CAA69929.1 BX647070 mRNA No translation available. AL137018 Genomic DNA No translation available. |
CCDSi | CCDS6646.1 [Q92753-1] |
Genome annotation databases
Ensembli | ENST00000376896; ENSP00000366093; ENSG00000198963 [Q92753-1] ENST00000396204; ENSP00000379507; ENSG00000198963 |
MANE-Selecti | ENST00000376896.8; ENSP00000366093.2; NM_006914.4; NP_008845.2 [Q92753-1] |
UCSCi | uc004ajh.4, human [Q92753-2] |
Keywords - Coding sequence diversityi
Alternative promoter usageSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | Y08639 mRNA Translation: CAA69929.1 BX647070 mRNA No translation available. AL137018 Genomic DNA No translation available. |
CCDSi | CCDS6646.1 [Q92753-1] |
3D structure databases
SMRi | Q92753 |
ModBasei | Search... |
Protein-protein interaction databases
IntActi | Q92753, 21 interactors |
STRINGi | 9606.ENSP00000366093 |
Chemistry databases
BindingDBi | Q92753 |
ChEMBLi | CHEMBL3091268 |
DrugBanki | DB01065, Melatonin |
DrugCentrali | Q92753 |
GuidetoPHARMACOLOGYi | 599 |
PTM databases
GlyGeni | Q92753, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q92753 |
PhosphoSitePlusi | Q92753 |
Genetic variation databases
BioMutai | RORB |
DMDMi | 124028630 |
Proteomic databases
MassIVEi | Q92753 |
PaxDbi | Q92753 |
PeptideAtlasi | Q92753 |
PRIDEi | Q92753 |
ProteomicsDBi | 75444 [Q92753-2] 75445 [Q92753-1] |
Protocols and materials databases
Antibodypediai | 1699, 398 antibodies from 31 providers |
DNASUi | 6096 |
Genome annotation databases
Ensembli | ENST00000376896; ENSP00000366093; ENSG00000198963 [Q92753-1] ENST00000396204; ENSP00000379507; ENSG00000198963 |
MANE-Selecti | ENST00000376896.8; ENSP00000366093.2; NM_006914.4; NP_008845.2 [Q92753-1] |
UCSCi | uc004ajh.4, human [Q92753-2] |
Organism-specific databases
GeneCardsi | RORB |
HGNCi | HGNC:10259, RORB |
HPAi | ENSG00000198963, Tissue enhanced (brain, retina) |
MalaCardsi | RORB |
MIMi | 601972, gene 618357, phenotype |
neXtProti | NX_Q92753 |
OpenTargetsi | ENSG00000198963 |
PharmGKBi | PA34631 |
VEuPathDBi | HostDB:ENSG00000198963 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4216, Eukaryota |
GeneTreei | ENSGT00940000157708 |
HOGENOMi | CLU_007368_2_0_1 |
InParanoidi | Q92753 |
OMAi | QFGPHNV |
OrthoDBi | 1412946at2759 |
PhylomeDBi | Q92753 |
TreeFami | TF319910 |
Enzyme and pathway databases
PathwayCommonsi | Q92753 |
Reactomei | R-HSA-383280, Nuclear Receptor transcription pathway |
SignaLinki | Q92753 |
Miscellaneous databases
ChiTaRSi | RORB, human |
Pharosi | Q92753, Tchem |
PROi | PR:Q92753 |
RNActi | Q92753, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000198963, Expressed in primary visual cortex and 169 other tissues |
ExpressionAtlasi | Q92753, baseline and differential |
Genevisiblei | Q92753, HS |
Family and domain databases
CDDi | cd06968, NR_DBD_ROR, 1 hit |
Gene3Di | 1.10.565.10, 1 hit 3.30.50.10, 1 hit |
InterProi | View protein in InterPro IPR035500, NHR-like_dom_sf IPR044101, NR_DBD_ROR IPR000536, Nucl_hrmn_rcpt_lig-bd IPR001723, Nuclear_hrmn_rcpt IPR003079, ROR_rcpt IPR001628, Znf_hrmn_rcpt IPR013088, Znf_NHR/GATA |
Pfami | View protein in Pfam PF00104, Hormone_recep, 1 hit PF00105, zf-C4, 1 hit |
PRINTSi | PR01293, RORNUCRECPTR PR00398, STRDHORMONER PR00047, STROIDFINGER |
SMARTi | View protein in SMART SM00430, HOLI, 1 hit SM00399, ZnF_C4, 1 hit |
SUPFAMi | SSF48508, SSF48508, 1 hit |
PROSITEi | View protein in PROSITE PS51843, NR_LBD, 1 hit PS00031, NUCLEAR_REC_DBD_1, 1 hit PS51030, NUCLEAR_REC_DBD_2, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | RORB_HUMAN | |
Accessioni | Q92753Primary (citable) accession number: Q92753 Secondary accession number(s): Q8WX73 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1997 |
Last sequence update: | January 23, 2007 | |
Last modified: | February 23, 2022 | |
This is version 188 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families